Variant: rs782092363 

    present in Gene: TKT
    present in Chromosome: 3
    Position on Chromosome: 53230612
    Alleles of this Variant: G/A

rs782092363 in TKT gene and SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS PMID 27259054 2016 Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.